{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T15:09:21Z","timestamp":1786115361463,"version":"build-2736575974"},"reference-count":19,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T00:00:00Z","timestamp":1785888000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T00:00:00Z","timestamp":1785888000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We report a case of a paternally inherited novel splice site variant in a patient prenatally diagnosed with Aplasia Cutis Congenita and Ectrodactyly (ACCES) syndrome with isolated split hand and foot malformations confirmed at birth. Intrafamilial variability has been previously reported in UBA2\u2010related syndromes and malformations. We suggest that the rising number of reported\n                    <jats:italic>UBA2<\/jats:italic>\n                    variants associated with isolated split hand\/ft malformations without a full ACCES phenotype highlights the functional importance of\n                    <jats:italic>UBA2<\/jats:italic>\n                    in distal limb morphogenesis.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70271","type":"journal-article","created":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T01:47:47Z","timestamp":1785980867000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Diagnosis of a Splice\u2010Site Variant in\n                    <scp>\n                      <i>UBA2<\/i>\n                    <\/scp>\n                    : Expanding the Clinical Spectrum of\n                    <scp>\n                      <i>UBA2<\/i>\n                    <\/scp>\n                    \u2010Related Disease"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2657-8399","authenticated-orcid":false,"given":"Victor","family":"Wakim","sequence":"first","affiliation":[{"name":"Department of Pediatrics Columbia University Vagelos College of Physicians and Surgeons and NewYork\u2010Presbyterian Morgan Stanley Children's Hospital  New York New York USA"},{"name":"Division of Clinical Genetics, Department of Pediatrics Columbia University Vagelos College of Physicians and Surgeons and NewYork\u2010Presbyterian Morgan Stanley Children's Hospital  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen G.","family":"Kaler","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Pediatrics Columbia University Vagelos College of Physicians and Surgeons and NewYork\u2010Presbyterian Morgan Stanley Children's Hospital  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin","family":"Guzman","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Pediatrics Columbia University Vagelos College of Physicians and Surgeons and NewYork\u2010Presbyterian Morgan Stanley Children's Hospital  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Walzer","sequence":"additional","affiliation":[{"name":"Division of Child and Adolescent Health, Department of Pediatrics Columbia University Vagelos College of Physicians and Surgeons and NewYork\u2010Presbyterian  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,5]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.1600"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23626"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.104009"},{"key":"e_1_2_9_5_1","unstructured":"Benchling.2026.https:\/\/help.benchling.com\/hc\/en\u2010us."},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07963"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.15.10618"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010021\u201002295\u2010y"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.12.015"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010021\u201003819\u20102"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2025.0042"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10280"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41439\u2010023\u201000242\u2010z"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010021\u201001182\u20101"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63852"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000520"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2023.11.013"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18594"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2020.06.024"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010019\u20100473\u20107"}],"container-title":["American 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